title: Stepwise developmental regression associated with novel CACNA1A mutation.
abstract: Mutations in CACNA1A were previously described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. We report on an 11-year-old girl with episodes of seizures, ataxia, headache, a decreased level of consciousness, and motor regression, with a background of mental retardation and mild cerebellar atrophy. Sequence analysis of the CACNA1A gene revealed a de novo Ile712Val sequence variant, which was not reported previously.
authors.affiliation: Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada.
authors.forename: Andrea A
authors.initials: AA
authors.lastname: Guerin
authors.forename: Annette
authors.initials: A
authors.lastname: Feigenbaum
authors.forename: Elizabeth J
authors.initials: EJ
authors.lastname: Donner
authors.forename: Grace
authors.initials: G
authors.lastname: Yoon
mesh_terms: D001259:Ataxia / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D002648:Child; D003244:Consciousness Disorders / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D020325:Migraine with Aura / Q000235:genetics; D020125:Mutation, Missense; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type